Chronic atrial and intestinal dysrhythmia syndrome
Synonyms: CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic atrial and intestinal dysrhythmia syndrome | CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder |
| fr | Syndrome de dysrythmie atriale et trouble de la motilité intestinale chronique | Syndrome CAID |
| de | Syndrom der chronischen atrialen und intestinalen Rhythmusstörung | CAID-Syndrom · Chronische Herzrhythmusstörung-intestinale Motilitätsstörung |
| es | Síndrome de disritmia auricular e intestinal crónico | Síndrome CAID · Trastorno de disritmia auricular-mobilidad intestinal crónico |
| it | Sindrome da disritmia cronica atriale e intestinale | Malattia disritmia atriale cronica-motilità intestinale · Sindrome CAID |
| nl | Chronische atriale en intestinale dysritmie-syndroom | CAID-syndroom · Chronische atriale dysritmie - intestinale motiliteitsstoornis |
| pt | Síndrome de disritmia auricular e intestinal crónica | |
| pl | Zespół przewlekłej dysarytmii przedsionkowo i jelitowej | Przewlekła dysarytmia przedsionkowa-zaburzenia motoryki jelit · Zespół CAID |
| cs | Syndrom chronické atriální a intestinální dysrytmie | CAID syndrom · Chronická atriální dysrytmie a poruchy intestinální motility |
| uk | Синдром хронічної передсердної та кишкової дисритмії | CAID-синдром · Хронічна передсердна аритмія - порушення перистальтики кишечника |
| zh | 慢性心房-肠道节律不齐综合征 | 慢性心律失常-肠动力障碍 |
| tr | Kronik atriyal ve intestinal disritmi sendromu | CAID sendromu · Kronik atriyal disritmi-intestinal motilite bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616201 | E | validated | |
| ICD-10 | K59.8 | NTBT | attributed | validated |
| ICD-11 | BC80.20 | NTBT | attributed | validated |
| MONDO | 0014528 | E | validated | |
| UMLS | C4015474 | E | validated | |
| GARD | 12281 | E | validated | |
| MedDRA | 10086078 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25088 | ENSG00000129810 | 609168 | 3p24.3 | shugoshin 1 | 25282101[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 25282101[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25282101[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435988
- This record as JSON: /data/d/435988.json